Varaico: Literature-Extracted Genetic Variants

Gene:SPNS2
Variant:p.E15*

SPNS2

44 papers

RefSeq Summary

The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a ca...

Pfam Domains

MFS_1aa 108–476UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

SPNS lysolipid transporter 2, sphingosine-1-phosphate

HGNC Alias Symbol

SLC63A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001124758.3
p.E15*
c.43G>T
Surrounding Variants
1 paper
NM_001124758.3
p.C3insFs
c.7_8insGG
1 paper
NM_001124758.3
p.C3insFs
c.7dupT
1 paper
NM_001124758.3
p.A34S
c.100G>T
1 paper
NM_001124758.3
p.G70fs
c.208_209fs
1 paper
NM_001124758.3
p.P71insFs
c.211dupC
1 paper
NM_001124758.3
p.P75A
c.223C>G
1 paper
NM_001124758.3
p.A104P
c.310G>C
1 paper
NM_001124758.3
p.Y116F
c.347A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."